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FLASH GENE

Symbol

EYS

contributors: mct/npt/shn - updated : 24/10/2010

HGNC name	eyes shut homolog (Drosophila)
HGNC id	21555

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	RP25 retinitis pigmentosa 25
Location	6q12      Physical location : 64.429.875 - 66.417.118
Synonym name	EGF-like-domain, multiple 10
	EGF-like-domain, multiple 11
	epidermal growth factor-like protein 10
	epidermal growth factor-like protein 11
	protein eyes shut homolog
	protein spacemaker homolog
Synonym symbol(s)	EGFL10, EGFL11, RP25, SPAM, C6orf178, C6orf179, C6orf180, KIAA0663, dJ22I17.2, dJ303F19.1, dJ1018A4.2, bA166P24.2, bA307F22.3, dJ303F19.1, bA74E24.1

DNA

TYPE	functioning gene
STRUCTURE	1987.24 kb     10 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D6S1005 - D6S1026 - EYS - D6S1551 - D6S430 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001142800 (transcript variant 1) 43 splicing 2245 NP_001136272 - 3144 - - NM_001142801 (transcript variant 2) 12 splicing 5462 NP_001136273 - 619 - - NM_198283 (transcript variant 3) 10 splicing 2245 NP_938024 - 594 - -

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Visual eye retina     specific

cells

System Cell Pubmed Species Stage Rna symbol Visual cone photoreceptor Visual rod photoreceptor

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	twenty-eight EGF-like domains
	five laminin A G-like domains

conjugated

GlycoP

HOMOLOGY

interspecies

ortholog to eys, Drosophila melanogaster

Homologene

FAMILY

CATEGORY

unknown/unspecified

SUBCELLULAR LOCALIZATION

extracellular

basic FUNCTION	being essential for photoreceptor morphology
	might be sequestered in the extracellular matrix, also known as the subretinal space, between the (developing) photoreceptors and RPE

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	Ca2+

protein	interaction with PROM1 (could be involved in ROS disc morphogenesis)
	might interact directly or indirectly with the extracellular domain of CRB1 or its homolog CRB2 and in this way form a critical component of Müller cell–photoreceptor cell and photoreceptor cell–photoreceptor cell interactions

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

RP25

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS